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Items: 1 to 50 of 288

1.

An acute exposure to intermittent negative airway pressure elicits respiratory long-term facilitation in awake humans.

Griffin HS, Al Humoud S, Benson JG, Cooper BG, Coomaraswamy K, Balanos GM.

Respir Physiol Neurobiol. 2019 Sep;267:20-26. doi: 10.1016/j.resp.2019.05.016. Epub 2019 Jun 6.

PMID:
31176890
2.

Roles for E1-independent replication and E6-mediated p53 degradation during low-risk and high-risk human papillomavirus genome maintenance.

Murakami I, Egawa N, Griffin H, Yin W, Kranjec C, Nakahara T, Kiyono T, Doorbar J.

PLoS Pathog. 2019 May 13;15(5):e1007755. doi: 10.1371/journal.ppat.1007755. eCollection 2019 May.

3.

Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R.

Genet Med. 2019 Apr 26. doi: 10.1038/s41436-019-0506-1. [Epub ahead of print]

PMID:
31028354
4.

Refining our understanding of cervical neoplasia and its cellular origins.

Doorbar J, Griffin H.

Papillomavirus Res. 2019 Jun;7:176-179. doi: 10.1016/j.pvr.2019.04.005. Epub 2019 Apr 8. Review.

5.

Utilising a milk-based meal replacement programme in a bariatric patient with poorly controlled type 2 diabetes mellitus.

Maher M, Rafey MF, Griffin H, Cunningham K, Finucane FM.

Endocrinol Diabetes Metab Case Rep. 2019 Apr 8;2019. pii: EDM190008. doi: 10.1530/EDM-19-0008. [Epub ahead of print]

6.

Whole tissue cervical mapping of HPV infection: Molecular evidence for focal latent HPV infection in humans.

Hammer A, de Koning MN, Blaakaer J, Steiniche T, Doorbar J, Griffin H, Mejlgaard E, Svanholm H, Quint WG, Gravitt PE.

Papillomavirus Res. 2019 Jun;7:82-87. doi: 10.1016/j.pvr.2019.02.004. Epub 2019 Feb 14.

7.

Risk stratification of cervical disease using detection of human papillomavirus (HPV) E4 protein and cellular MCM protein in clinical liquid based cytology samples.

Stevenson A, Kavanagh K, Pan J, Stevenson L, Griffin H, Doorbar J, Scott E, Deeny M, Cuschieri K, Graham SV.

J Clin Virol. 2018 Nov;108:19-25. doi: 10.1016/j.jcv.2018.08.011. Epub 2018 Aug 31.

8.

The Role of Human Papillomaviruses and Polyomaviruses in BRAF-Inhibitor Induced Cutaneous Squamous Cell Carcinoma and Benign Squamoproliferative Lesions.

Purdie KJ, Proby CM, Rizvi H, Griffin H, Doorbar J, Sommerlad M, Feltkamp MC, der Meijden EV, Inman GJ, South AP, Leigh IM, Harwood CA.

Front Microbiol. 2018 Aug 14;9:1806. doi: 10.3389/fmicb.2018.01806. eCollection 2018.

9.

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution.

Santibanez-Koref M, Griffin H, Turnbull DM, Chinnery PF, Herbert M, Hudson G.

Mitochondrion. 2019 May;46:302-306. doi: 10.1016/j.mito.2018.08.003. Epub 2018 Aug 9.

10.

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Burns DT, Donkervoort S, Müller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, Bönnemann CG.

Am J Hum Genet. 2018 May 3;102(5):858-873. doi: 10.1016/j.ajhg.2018.03.011.

11.

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

Bansagi B, Phan V, Baker MR, O'Sullivan J, Jennings MJ, Whittaker RG, Müller JS, Duff J, Griffin H, Miller JAL, Gorman GS, Lochmüller H, Chinnery PF, Roos A, Swan LE, Horvath R.

Neurology. 2018 May 22;90(21):e1842-e1848. doi: 10.1212/WNL.0000000000005566. Epub 2018 May 2.

12.

Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.

Boczonadi V, Meyer K, Gonczarowska-Jorge H, Griffin H, Roos A, Bartsakoulia M, Bansagi B, Ricci G, Palinkas F, Zahedi RP, Bruni F, Kaspar B, Lochmüller H, Boycott KM, Müller JS, Horvath R.

Hum Mol Genet. 2018 Jun 15;27(12):2187-2204. doi: 10.1093/hmg/ddy127.

13.

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R.

Genet Med. 2018 Oct;20(10):1224-1235. doi: 10.1038/gim.2017.251. Epub 2018 Mar 8. Erratum in: Genet Med. 2019 Apr 26;:.

14.

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.

Bartsakoulia M, Pyle A, Troncoso-Chandía D, Vial-Brizzi J, Paz-Fiblas MV, Duff J, Griffin H, Boczonadi V, Lochmüller H, Kleinle S, Chinnery PF, Grünert S, Kirschner J, Eisner V, Horvath R.

Hum Mol Genet. 2018 Apr 1;27(7):1186-1195. doi: 10.1093/hmg/ddy033.

15.

Mutations in HPV18 E1^E4 Impact Virus Capsid Assembly, Infectivity Competence, and Maturation.

Biryukov J, Myers JC, McLaughlin-Drubin ME, Griffin HM, Milici J, Doorbar J, Meyers C.

Viruses. 2017 Dec 19;9(12). pii: E385. doi: 10.3390/v9120385.

16.

Rapid Evolution of Primate Type 2 Immune Response Factors Linked to Asthma Susceptibility.

Barber MF, Lee EM, Griffin H, Elde NC.

Genome Biol Evol. 2017 Jun 1;9(6):1757-1765. doi: 10.1093/gbe/evx120.

17.

Modulation of basal cell fate during productive and transforming HPV-16 infection is mediated by progressive E6-driven depletion of Notch.

Kranjec C, Holleywood C, Libert D, Griffin H, Mahmood R, Isaacson E, Doorbar J.

J Pathol. 2017 Aug;242(4):448-462. doi: 10.1002/path.4917.

18.

HPV16 and 18 genome amplification show different E4-dependence, with 16E4 enhancing E1 nuclear accumulation and replicative efficiency via its cell cycle arrest and kinase activation functions.

Egawa N, Wang Q, Griffin HM, Murakami I, Jackson D, Mahmood R, Doorbar J.

PLoS Pathog. 2017 Mar 17;13(3):e1006282. doi: 10.1371/journal.ppat.1006282. eCollection 2017 Mar.

19.

Genetic heterogeneity of motor neuropathies.

Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmüller H, Chinnery PF, Horvath R.

Neurology. 2017 Mar 28;88(13):1226-1234. doi: 10.1212/WNL.0000000000003772. Epub 2017 Mar 1.

20.

Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains.

Wei W, Keogh MJ, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF.

Acta Neuropathol Commun. 2017 Feb 22;5(1):17. doi: 10.1186/s40478-017-0419-7. No abstract available.

21.

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains.

Wei W, Keogh MJ, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF.

Acta Neuropathol Commun. 2017 Feb 2;5(1):13. doi: 10.1186/s40478-016-0404-6. Erratum in: Acta Neuropathol Commun. 2017 Feb 22;5(1):17.

22.

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ, Wei W, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF.

Genome Res. 2017 Jan;27(1):165-173. doi: 10.1101/gr.210609.116. Epub 2016 Dec 21.

23.

Phenotypic convergence of Menkes and Wilson disease.

Bansagi B, Lewis-Smith D, Pal E, Duff J, Griffin H, Pyle A, Müller JS, Rudas G, Aranyi Z, Lochmüller H, Chinnery PF, Horvath R.

Neurol Genet. 2016 Nov 17;2(6):e119. eCollection 2016 Dec.

24.

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.

Wesolowska M, Gorman GS, Alston CL, Pajak A, Pyle A, He L, Griffin H, Chinnery PF, Miller JA, Schaefer AM, Taylor RW, Lightowlers RN, Chrzanowska-Lightowlers ZM.

J Neuromuscul Dis. 2015 Oct 7;2(4):409-419.

25.

Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy.

Lewis-Smith DJ, Duff J, Pyle A, Griffin H, Polvikoski T, Birchall D, Horvath R, Chinnery PF.

Neurol Genet. 2016 Oct 31;2(6):e110. eCollection 2016 Dec.

26.

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Metodiev MD, Thompson K, Alston CL, Morris AA, He L, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rötig A, Taylor RW.

Am J Hum Genet. 2016 Jul 7;99(1):246. doi: 10.1016/j.ajhg.2016.06.013. No abstract available.

27.

Detection of Papillomavirus Gene Expression Patterns in Tissue Sections.

Griffin H, Doorbar J.

Curr Protoc Microbiol. 2016 May 6;41:14B.7.1-14B.7.20. doi: 10.1002/cpmc.6.

PMID:
27153382
28.

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Metodiev MD, Thompson K, Alston CL, Morris AAM, He L, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rötig A, Taylor RW.

Am J Hum Genet. 2016 May 5;98(5):993-1000. doi: 10.1016/j.ajhg.2016.03.010. Epub 2016 Apr 28. Erratum in: Am J Hum Genet. 2016 Jul 7;99(1):246.

29.

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood.

Lewis-Smith D, Kamer KJ, Griffin H, Childs AM, Pysden K, Titov D, Duff J, Pyle A, Taylor RW, Yu-Wai-Man P, Ramesh V, Horvath R, Mootha VK, Chinnery PF.

Neurol Genet. 2016 Mar 3;2(2):e59. doi: 10.1212/NXG.0000000000000059. eCollection 2016 Apr.

30.

The use of ultrasound to assess fetal growth in a guinea pig model of fetal growth restriction.

Swanson AM, Mehta V, Ofir K, Rowe M, Rossi C, Ginsberg Y, Griffin H, Barker H, White T, Boyd M, David AL.

Lab Anim. 2017 Apr;51(2):181-190. doi: 10.1177/0023677216637506. Epub 2016 Jul 9.

PMID:
27118731
31.

Respiratory chain deficiency in nonmitochondrial disease.

Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R.

Neurol Genet. 2015 Apr 27;1(1):e6. doi: 10.1212/NXG.0000000000000006. eCollection 2015 Jun.

32.

Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.

Dang TS, Willet JD, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, Hughes SM, Abinun M, Tee LJ, Barge D, Engelhardt KR, Jackson M, Cant AJ, Maher ER, Koref MS, Reynard LN, Ali S, Hambleton S.

J Clin Immunol. 2016 Apr;36(3):336-7. doi: 10.1007/s10875-016-0248-7. No abstract available.

33.

Exome sequencing in dementia with Lewy bodies.

Keogh MJ, Kurzawa-Akanbi M, Griffin H, Douroudis K, Ayers KL, Hussein RI, Hudson G, Pyle A, Cordell HJ, Attems J, McKeith IG, O'Brien JT, Burn DJ, Morris CM, Thomas AJ, Chinnery PF.

Transl Psychiatry. 2016 Feb 2;6:e728. doi: 10.1038/tp.2015.220.

34.

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.

Dang TS, Willet JD, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, Hughes SM, Abinun M, Tee LJ, Barge D, Engelhardt KR, Jackson M, Cant AJ, Maher ER, Koref MS, Reynard LN, Ali S, Hambleton S.

J Clin Immunol. 2016 Feb;36(2):117-22. doi: 10.1007/s10875-016-0232-2. Epub 2016 Jan 22. Erratum in: J Clin Immunol. 2016 Apr;36(3):336-7.

35.

Development and evaluation of a community respiratory physiotherapy service for children with severe neurodisability.

Wolff A, Griffin H, Flanigan M, Everest S, Thomas D, Whitehouse W.

BMJ Qual Improv Rep. 2015 Aug 19;4(1). pii: u208552.w3411. doi: 10.1136/bmjquality.u208552.w3411. eCollection 2015.

36.

Investigating Diagnostic Problems of CIN1 and CIN2 Associated With High-risk HPV by Combining the Novel Molecular Biomarker PanHPVE4 With P16INK4a.

van Baars R, Griffin H, Wu Z, Soneji YJ, van de Sandt M, Arora R, van der Marel J, Ter Harmsel B, Jach R, Okon K, Huras H, Jenkins D, Quint W, Doorbar J.

Am J Surg Pathol. 2015 Nov;39(11):1518-1528. doi: 10.1097/PAS.0000000000000498.

37.

Motivational Modulation of Self-Initiated and Externally Triggered Movement Speed Induced by Threat of Shock: Experimental Evidence for Paradoxical Kinesis in Parkinson's Disease.

McDonald LM, Griffin HJ, Angeli A, Torkamani M, Georgiev D, Jahanshahi M.

PLoS One. 2015 Aug 18;10(8):e0135149. doi: 10.1371/journal.pone.0135149. eCollection 2015.

38.

Effects of an eight-week supervised, structured lifestyle modification programme on anthropometric, metabolic and cardiovascular risk factors in severely obese adults.

Crowe C, Gibson I, Cunningham K, Kerins C, Costello C, Windle J, O Shea PM, Hynes M, McGuire B, Kilkelly K, Griffin H, O Brien T, Jones J, Finucane FM.

BMC Endocr Disord. 2015 Aug 1;15:37. doi: 10.1186/s12902-015-0038-x.

39.

Human Papillomaviruses; Epithelial Tropisms, and the Development of Neoplasia.

Egawa N, Egawa K, Griffin H, Doorbar J.

Viruses. 2015 Jul 16;7(7):3863-90. doi: 10.3390/v7072802. Review.

40.

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.

Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M.

Am J Hum Genet. 2015 Aug 6;97(2):319-28. doi: 10.1016/j.ajhg.2015.06.011. Epub 2015 Jul 16.

41.

The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Bansagi B, Griffin H, Ramesh V, Duff J, Pyle A, Chinnery PF, Horvath R.

Brain. 2015 Nov;138(Pt 11):e391. doi: 10.1093/brain/awv159. Epub 2015 Jun 10. No abstract available.

42.

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.

Keogh MJ, Steele H, Douroudis K, Pyle A, Duff J, Hussain R, Smertenko T, Griffin H, Santibanez-Koref M, Horvath R, Chinnery PF.

J Neurol. 2015 Aug;262(8):1822-7. doi: 10.1007/s00415-015-7772-x. Epub 2015 May 16.

43.

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering.

Daud D, Griffin H, Douroudis K, Kleinle S, Eglon G, Pyle A, Chinnery PF, Horvath R.

J Neurol. 2015 Jul;262(7):1673-7. doi: 10.1007/s00415-015-7755-y. Epub 2015 May 10.

44.

Stratification of HPV-induced cervical pathology using the virally encoded molecular marker E4 in combination with p16 or MCM.

Griffin H, Soneji Y, Van Baars R, Arora R, Jenkins D, van de Sandt M, Wu Z, Quint W, Jach R, Okon K, Huras H, Singer A, Doorbar J.

Mod Pathol. 2015 Jul;28(7):977-93. doi: 10.1038/modpathol.2015.52. Epub 2015 May 8.

45.

Phenotypic variability of TRPV4 related neuropathies.

Evangelista T, Bansagi B, Pyle A, Griffin H, Douroudis K, Polvikoski T, Antoniadi T, Bushby K, Straub V, Chinnery PF, Lochmüller H, Horvath R.

Neuromuscul Disord. 2015 Jun;25(6):516-21. doi: 10.1016/j.nmd.2015.03.007. Epub 2015 Mar 18.

46.

Reply: Evaluation of exome sequencing variation in undiagnosed ataxias.

Pyle A, Griffin H, Keogh MJ, Horvath R, Chinnery PF.

Brain. 2015 Oct;138(Pt 10):e384. doi: 10.1093/brain/awv088. Epub 2015 Apr 4. No abstract available.

PMID:
25842392
47.

Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.

Keogh MJ, Pyle A, Daud D, Griffin H, Douroudis K, Eglon G, Miller J, Horvath R, Chinnery PF.

Neurology. 2015 Apr 28;84(17):1818-20. doi: 10.1212/WNL.0000000000001517. Epub 2015 Apr 1. No abstract available.

48.

Human papillomavirus molecular biology and disease association.

Doorbar J, Egawa N, Griffin H, Kranjec C, Murakami I.

Rev Med Virol. 2015 Mar;25 Suppl 1:2-23. doi: 10.1002/rmv.1822. Review.

49.

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.

Euro L, Konovalova S, Asin-Cayuela J, Tulinius M, Griffin H, Horvath R, Taylor RW, Chinnery PF, Schara U, Thorburn DR, Suomalainen A, Chihade J, Tyynismaa H.

Front Genet. 2015 Feb 6;6:21. doi: 10.3389/fgene.2015.00021. eCollection 2015.

50.

SPG7 mutations are a common cause of undiagnosed ataxia.

Pfeffer G, Pyle A, Griffin H, Miller J, Wilson V, Turnbull L, Fawcett K, Sims D, Eglon G, Hadjivassiliou M, Horvath R, Németh A, Chinnery PF.

Neurology. 2015 Mar 17;84(11):1174-6. doi: 10.1212/WNL.0000000000001369. Epub 2015 Feb 13. No abstract available. Erratum in: Neurology. 2015 May 5;84(18):1911.

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